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Article

Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia.

Revista espanola de cardiologia (English ed.) - 1 May 2015

Domingo Diana, Neco Patricia, Fernández-Pons Elena, Zissimopoulos Spyros, Molina Pilar, Olagüe José, Suárez-Mier M Paz, Lai F Anthony, Gómez Ana M, Zorio Esther

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Catecholaminergic polymorphic ventricular tachycardia is a malignant disease, due to mutations in proteins controlling Ca(2+) homeostasis. While the phenotype is characterized by polymorphic ventricular arrhythmias under stress, supraventricular arrhythmias may occur and are not fully characterized. METHODS: Twenty-five relatives from a Spanish family with several sudden deaths were...

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PMID: 25440180
DOI: 10.1016/j.rec.2014.04.023

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